Newly discovered familial juvenile gouty nephropathy in a Japanese family.
Newly discovered familial juvenile gouty nephropathy in a Japanese family.
复制标题
日本家族新发现家族性青少年痛风性肾病。
作者：
A. Saeki;T. Hosoya;H. Okabe;M. Saji;A. Tabe;K. Ichida;K. Itoh;K. Joh;O. Sakai
我们最初注意到两名患有痛风和肾功能不全的年轻日本姐妹，这导致了对她们患有类似疾病的家庭成员的调查。一位姐妹，26岁，女性，从小就患有多尿症，患有痛风和肾功能不全。她的妹妹也有多尿、高尿酸血症病史，肾功能中度下降。他们的尿尿酸水平降低，但红细胞中的嘌呤酶活性正常。妹妹的肾活检标本显示严重的间质纤维化并伴有肾小管萎缩。对这个家庭的调查揭示了常染色体显性遗传模式。我们相信这些是在日本家庭中发现的新的青少年痛风性肾病家族病例。
Our attention was initially called to 2 young Japanese sisters with gout and renal insufficiency, which led to an investigation of members of their family with similar conditions. One sister, a 26-year-old woman who had suffered from polyuria since infancy, suffered from gout and renal insufficiency. Her younger sister also had a history of polyuria, hyperuricemia, and moderately reduced renal function. Their urinary uric acid levels were reduced but purine enzyme activities in the erythrocytes were normal. A renal biopsy specimen from the younger sister showed severe interstitial fibrosis with tubular atrophy. An investigation of the family revealed an autosomal dominant transmission pattern. We believe these are new familial cases of juvenile gouty nephropathy found in a Japanese family.